PIGO - phosphatidylinositol glycan anchor biosynthesis class O Gene

Homo sapiens

Also known as HPMRS2

Gene ID: 84720 | Gene type: protein coding

About PIGO

Cytogenetic location: 9p13.3 Genomic coordinates (GRCh38): 9:35,088,688-35,096,591 (from NCBI)

This gene has 19 transcripts (splice variants), 199 orthologues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 6.9), testis (RPKM 4.4) and 25 other tissues.

Summary

This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This protein is involved in the transfer of ethanolaminephosphate (EtNP) to the third mannose in GPI. At least three alternatively spliced transcripts encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2011]

PIGO Products(3)

mRNA	Protein	Name
NM_001201484.2	NP_001188413.1	GPI ethanolamine phosphate transferase 3 isoform 2
NM_032634.4	NP_116023.2	GPI ethanolamine phosphate transferase 3 isoform 1
NM_152850.4	NP_690577.2	GPI ethanolamine phosphate transferase 3 isoform 2

PIGO Protein Structure

Phosphodiest

0
200
400
600
800
1000
1089 a.a.

Protein Preferred Names

Protein Names

GPI ethanolamine phosphate transferase 3

phosphatidylinositol-glycan biosynthesis class O protein

Related Diseases

Diseases

Alias

Hyperphosphatasia With Mental Retardation Syndrome 2

Hyperphosphatasia With Intellectual Disability Syndrome 2	HPMRS2
Glycosylphosphatidylinositol Biosynthesis Defect 6	Gpibd6
Hyperphosphatasia, With Mental Retardation Syndrome, Type 2

Hyperphosphatasia-Intellectual Disability Syndrome

Mabry Syndrome

Hyperphosphatasia With Mental Retardation

Hyperphosphatasia With Mental Retardation Syndrome 1

Mabry Syndrome	Hyperphosphatasia With Intellectual Disability Syndrome 1
HPMRS1	Glycosylphosphatidylinositol Biosynthesis Defect 2
Gpibd2	Hyperphosphatasia With Mental Retardation Syndrome
Hyperphosphatasia With Seizures And Neurologic Deficit	Hyperphosphatasia, With Mental Retardation Syndrome, Type 1
Hyperphosphatasia With Mental Retardation

Anterior Segment Dysgenesis 4

Iridogoniodysgenesis Syndrome	Iridogoniodysgenesis, Type 2
Irid2	Iridogoniodysgenesis Type 2
ASGD4	Igds
Iris Hypoplasia With Early-Onset Glaucoma, Autosomal Dominant	Ihga
Irid 1	Irid 2
Iridogoniodysgenesis Type 1	Igds2
Iridogoniodysgenesis Syndrome 2	Iridogoniodysgenesis, Type 1

Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome

Chime Syndrome	Zunich Neuroectodermal Syndrome
Zunich-Kaye Syndrome	CHIME
Glycosylphosphatidylinositol Biosynthesis Defect 5	Gpibd5
Coloboma-Congenital Heart Disease-Ichthyosiform Dermatosis-Intellectual Disability-Ear Anomalies Syndrome	Congenital Disorder Of Glycosylation Due To Pigl Deficiency
Neuroectodermal Dysplasia, Chime Type	Neuroectodermal Syndrome, Zunich Type
Pigl-Cdg	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability And Ear Anomalies Syndrome
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, And Ear Anomalies Syndrome

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1

MCAHS1	Glycosylphosphatidylinositol Biosynthesis Defect 3
Gpibd3	Multiple Congenital Anomalies, Hypotonia, Seizures Syndrome, Type 1

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2

MCAHS2	Glycosylphosphatidylinositol Biosynthesis Defect 4
Developmental And Epileptic Encephalopathy 20	Epileptic Encephalopathy, Early Infantile, 20
Eiee20	Gpibd4
Early Infantile Epileptic Encephalopathy 20	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 2
Mcahs Type 2	Dee20
Fccs	Ferro-Cerebro-Cutaneous Syndrome
Multiple Congenital Anomalies, Hypotonia, Seizures Syndrome, Type 2

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome

Pign-Cdg	Congenital Disorder Of Glycosylation Due To Pign Deficiency
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Mcahs1

Hypertelorism, Microtia, Facial Clefting Syndrome

Hmc Syndrome	Bixler Christian Gorlin Syndrome
Bixler-Christian-Gorlin Syndrome	Hypertelorism-Microtia-Facial Clefting Syndrome
Bixler Syndrome	Hypertelorism-Microtia-Clefting Syndrome
Hypertelorism Microtia Facial Clefting Syndrome

Immunodeficiency 23

Cid Due To Pgm3 Deficiency	Combined Immunodeficiency Due To Pgm3 Deficiency
Pgm3-Cdg	Pgm3-Related Congenital Disorder Of Glycosylation
IMD23	Immunodeficiency With Hyper Ige And Cognitive Impairment
Immunodeficiency-Vasculitis-Myoclonus Syndrome	Ivms
Phosphoglucomutase 3 Deficiency	Phosphoglucomutase Deficiency Type 3
Pgm3-Congenital Disorder Of Glycosylation	Agm1 Deficiency
Deficiency Of N-Acetylglucosamine-Phosphate Mutase 1	Deficiency Of Phosphoglucomutase 3
Pgm3 Deficiency	Immunodeficiency, Type 23

Iris Disease

Iris Diseases

Schneckenbecken Dysplasia

SHNKND	Chondrodysplasia, Lethal Neonatal, With Snail-Like Pelvis
Chondrodysplasia Lethal Neonatal With Snail Like Pelvis	Chondrodysplasia With Snail-Like Pelvis
Slc35d1-Cdg	Dysplasia, Schneckenbecken

Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive	Autosomal Recessive Mental Retardation
Autosomal Recessive Non-Syndromic Mental Retardation	Autosomal Recessive Non-Syndromic Intellectual Disability

Diaphragmatic Hernia, Congenital

Congenital Diaphragmatic Hernia	Diaphragmatic Hernia
Cdh	Congenital Diaphragmatic Defect
Hernia, Diaphragmatic	Dih
Hernia, Congenital Diaphragmatic	Hcd
Diaphragmatic Defect, Congenital	Diaphragm, Unilateral Agenesis Of
Hemidiaphragm, Agenesis Of	Diaphragmatic Hernia 1
Agenesis Of Hemidiaphragm	Unilateral Agenesis Of Diaphragm
Hernia Diaphragmatic	Hernia Diaphragmatic Congenital
Hernia, Diaphragmatic, Type 1	Hiatus Hernia
Oesophageal Hiatus Hernia	Paraoesophageal Hernia
Sliding Hiatus Hernia	Congenital Diaphragm Hernia
Congenital Diaphragm Defect With Hernia	Gross Congenital Diaphragm Defect

Childhood Absence Epilepsy

Pyknolepsy	Petit Mal Epilepsy
Absence Seizures	Absence Seizure
Petit Mal Seizure	Absence Epilepsy, Childhood
Pykno-Epilepsy	Epilepsy, Absence
Absence Epilepsy	Pycnolepsy

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression	Early Infantile Epileptic Encephalopathy With Suppression Bursts
Eiee	Early Infantile Epileptic Encephalopathy With Suppression-Bursts
Ohtahara Syndrome	Encephalopathy, Epileptic, Early Infantile

Hirschsprung Disease 1

Hirschsprung Disease	Aganglionic Megacolon
Hscr	Hirschsprung'S Disease
Congenital Megacolon	Congenital Intestinal Aganglionosis
Colonic Aganglionosis	Hirschsprung Disease, Susceptibility To, 1
Hirschsprung Disease, Protection Against	HSCR1
Mgc	Pelvirectal Achalasia
Total Intestinal Aganglionosis	Megacolon, Aganglionic
Macrocolon	Hscr 1
Hirschsprung Disease Type 1	Hirschsprung Disease, Type 1
Congenital Dilatation Of Colon	Aganglionosis
Congenital Aganglionic Megacolon	Aganglionosis Of Colon
Bowel Aganglionosis	Colon Aganglionosis
Hirschsprung Megacolon

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10497	PIGO Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	PIGO	VGNC	VGNC:64165
Rattus norvegicus	PIGO	RGD	RGD:1309498
Mus musculus	PIGO	MGD	MGI:1861452
Macaca mulatta	PIGO	VGNC	VGNC:75851
Bos taurus	PIGO	VGNC	VGNC:32874